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Margraf, R. L. et al. Variant identification in multi-sample pools by illumina genome analyzer sequencing.
Dellinger, A.E. et al. Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays.
Zhu, Y. et al. SpliceVista, a tool for splice variant identification and visualization in shotgun proteomics data.
Faye, L.L., Machiela, M.J., Kraft, P., Bull, S.B. & Sun, L. Re-ranking sequencing variants in the post-GWAS era for accurate causal variant identification.
Commonly used methods of HPAI variant identification are based on genetic analysis, mainly polymerase chain reaction (PCR) technique.
Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays.
Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology.
NGS variant identification is not without error.
Several approaches to variant identification are possible.
Consensus calls for variant identification were also carried with MAQ.
Additionally, we closely describe existing pipelines integrating read alignments, variant identification and annotation.
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